(Q72679730)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8270249%20AND%20SRC:MED&resulttype=core&format=json

28 October 2019

title

Quantification of point mutations associated with Leber hereditary optic neuroretinopathy by solid-phase minisequencing (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8270249%20AND%20SRC:MED&resulttype=core&format=json

28 October 2019

author name string

V Juvonen

1

1 reference

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28 October 2019

K Huoponen

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8270249%20AND%20SRC:MED&resulttype=core&format=json

28 October 2019

A C Syvänen

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8270249%20AND%20SRC:MED&resulttype=core&format=json

28 October 2019

E Nikoskelainen

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8270249%20AND%20SRC:MED&resulttype=core&format=json

28 October 2019

M L Savontaus

5

1 reference

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28 October 2019

publication date

1 January 1994

1 reference

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28 October 2019

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8270249%20AND%20SRC:MED&resulttype=core&format=json

28 October 2019

volume

93

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8270249%20AND%20SRC:MED&resulttype=core&format=json

28 October 2019

issue

1

1 reference

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28 October 2019

page(s)

16-20

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8270249%20AND%20SRC:MED&resulttype=core&format=json

https://scigraph.springernature.com/pub.10.1007/bf00218906

28 October 2019

exact match

0 references

cites work

Segregation of mitochondrial genomes in a heteroplasmic lineage with Leber hereditary optic neuroretinopathy

1 reference

12 December 2020

Sequence and organization of the human mitochondrial genome

1 reference

12 December 2020

A primer-guided nucleotide incorporation assay in the genotyping of apolipoprotein E

1 reference

12 December 2020

Screening for defined cystic fibrosis mutations by solid-phase minisequencing

1 reference

12 December 2020

Evidence against an X-linked locus close to DXS7 determining visual loss susceptibility in British and Italian families with Leber hereditary optic neuropathy

1 reference

12 December 2020

Alternative, simultaneous complex I mitochondrial DNA mutations in Leber's hereditary optic neuropathy

1 reference

12 December 2020

Mitochondrial encephalopathies: molecular genetic diagnosis from blood samples

1 reference

12 December 2020

N-ras gene mutations in acute myeloid leukemia: accurate detection by solid-phase minisequencing

1 reference

12 December 2020

Replacement of bovine mitochondrial DNA by a sequence variant within one generation

1 reference

12 December 2020

Mitochondrial DNA mutation associated with Leber's hereditary optic neuropathy

1 reference

12 December 2020

Quantification of mitochondrial DNA carrying the tRNA(8344Lys) point mutation in myoclonus epilepsy and ragged-red-fiber disease

1 reference

12 December 2020

A new mitochondrial disease associated with mitochondrial DNA heteroplasmy

1 reference

12 December 2020

Mitochondrial gene segregation in mammals: is the bottleneck always narrow?

1 reference

12 December 2020

Time-resolved fluorometry in the diagnosis of Leber hereditary optic neuroretinopathy

1 reference

12 December 2020

Mitochondrial DNA complex I and III mutations associated with Leber's hereditary optic neuropathy

1 reference

12 December 2020

Quantification of tRNA3243(Leu) point mutation of mitochondrial DNA in MELAS patients and its effects on mitochondrial transcription

1 reference

12 December 2020

Cytochrome b mutations in Leber hereditary optic neuropathy

1 reference

12 December 2020

Leber's hereditary optic neuroretinopathy, a maternally inherited disease. A genealogic study in four pedigrees

1 reference

12 December 2020

Myoclonic epilepsy and ragged-red fiber disease (MERRF) is associated with a mitochondrial DNA tRNA(Lys) mutation

1 reference

12 December 2020

A new mtDNA mutation associated with Leber hereditary optic neuroretinopathy

1 reference

12 December 2020

Genetic heterogeneity and mitochondrial DNA heteroplasmy in Leber's hereditary optic neuropathy.

1 reference

12 December 2020

Mitochondrial DNA polymorphism in a maternal lineage of Holstein cows

1 reference

12 December 2020

Mitochondrial DNA mutation and heteroplasmy in type I Leber hereditary optic neuropathy

1 reference

12 December 2020

Rapid segregation of heteroplasmic bovine mitochondria

1 reference

12 December 2020

Convenient and quantitative determination of the frequency of a mutant allele using solid-phase minisequencing: application to aspartylglucosaminuria in Finland

1 reference

12 December 2020

Leber hereditary optic neuropathy: identification of the same mitochondrial ND1 mutation in six pedigrees

1 reference

12 December 2020

mtDNA heteroplasmy in Leber hereditary optic neuroretinopathy

1 reference

12 December 2020

Identifiers

DOI

10.1007/BF00218906

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8270249%20AND%20SRC:MED&resulttype=core&format=json

28 October 2019

1 reference